Robin Cook - Marker

The public's disregard for this landmark achievement has continued, even though the involved science and technology have been charging ahead, and reporting startling discoveries, such as the surprising fact that we humans have only about twenty-five thousand or so genes-a far cry from the hundred thousand experts had predicted not too long ago-and not that many more than an organism as comparatively simple as a roundworm! (This discovery is a blow to humanity's hubris equivalent to the Copernican revelation that the earth revolved around the sun, instead of vice versa.) In short, the decipherment of the human genome and the avalanche of research cascading from it has disappeared from most everyone's radar except for those working in the two new and related endeavors of Genomics and Bioinformatics. Genomics, in simple terms, is the study of the flow of information in a cell, while Bioinformatics is the application of computers to make sense of the enormous amount of data coming from Genomics.

In my mind, this lack of interest or apathy or whatever it might be called is startling; I believe the decipherment of the human genome might be the most important milestone in the history of medical science to date. After all, it gives us all the letters of the "book of life" in the right order, despite our having, as of yet, imperfect understanding of the language or the punctuation. In other words, in a cryptic form that is now being decoded with gathering speed, we have access to all the information nature has amassed to make and run a human being! As a consequence, the knowledge of the human genome will change just about everything we know about medicine, and some of the changes are going to happen sooner rather than later.

Like every major discovery/milestone in science, this one will have both good and bad consequences. Consider the consequences stemming from research into the inner structure and workings of the atom. We didn't do so well in that instance, as evidenced by current events, and we have to do better with the decipherment of the human genome, since it behooves society to consider all consequences of major leaps in science and technology and deal with them in a proactive manner rather than on a reactive, ad hoc basis.

Marker deals with one of the negative consequences-i.e., the negative impact of the ability to predict illness when confidentiality is breached and the information is obtained by or otherwise falls into the wrong hands. Unfortunately, the chances of this occurring will be high, since microarrays as described in Marker already exist, with the ability to test with ease for literally thousands of markers linked to deleterious genes with a single drop of blood. (A marker is a point alteration in the sequence of nucleotide bases forming the rungs of the ladder of the DNA molecule. Markers have been mapped throughout the human genome.) The microarray slides are read automatically by laser scanners, and the results, thanks to Bioinformatics, are fed directly into computers armed with appropriate software such that risk and hence cost can be predicted with rapidly advancing speed and accuracy. The end result will be that the concept of health insurance, which is based on pooling risk within specified groups, will become obsolete. In other words, risk cannot be pooled if it can be determined.

From my perspective, the implications of this developing state of affairs are prodigious. As a physician, I have always been against health insurance except for catastrophic care and for those financially unable to pay. The doctor-patient relationship is the most personal and rewarding for both the patient and the physician when a clear, direct fiduciary relationship exists. In such a circumstance, in my experience, both individuals value the encounter more, which invariably leads to more time, more attention to potentially important detail, and a higher level of compliance-all of which invariably results in a better outcome and a more rewarding experience.

With the power of Genomics and Bioinformatics obviating the pooling of risk within defined groups, I have had to revamp my position, which has resulted in my switching from one extreme to the other. I now feel that there is only one solution to the problem of paying for healthcare in the United States, indeed for all developed countries in this global economy: to pool risk for the entire nation. (Under the rubric of healthcare I mean preventive care, acute care, and catastrophic care.) Although I never thought I'd be advocating this, I now believe that the sooner we as a nation move to a government-sponsored, obviously nonprofit, tax-supported single-payer plan, the better off we will be. Only then will we be able to pool risk for the en- tire country, as well as decide rationally how much we should spend on healthcare in general. One of the other effects of Genomics on healthcare will be the opportunity to individualize care. The entire pharmacological basis of therapeutics will be changing, thanks to another new field: Pharmacogenics, which will tailor-make drugs for individual patients according to their unique genomic makeup. The benefits of such care will be enormous, but so will the costs. Since we already spend over 15 percent of our GDP on healthcare, this has to be an important consideration.

There are other compelling arguments for a national, single-payer plan for healthcare, but to my mind none of them is nearly as persuasive as the developing power of Genomics. But change will not come easily. As Jack Stapleton comments in Marker: "What's reasonable and what isn't has little to do with decisions about healthcare in this country… Everything is decided according to vested interests." Difficulties aside, it is my fervent belief that the sooner we move to such a plan, the better off the country will be. Luckily, we have the experiences of a number of other industrialized countries that have already enacted single-payer systems to learn from.

I would like to add just a few words about how a nurse as antisocial as Jasmine Rakoczi could get-and keep-a nursing job. Quite simply, there is a severe nursing shortage in the United States, and our hospitals, even our premier academic centers, are forced to continuously recruit nurses. As mentioned in Marker, this recruitment extends to other countries, including undeveloped nations. The combination of low compensation and the pressure to increase productivity (translated into forcing individual nurses to take on more patients than they can reasonably handle) has created enough of an adverse working environment that experienced nurses seek alternate employment, and young men and women are reluctant to begin the long, arduous, and expensive training. What makes this particularly unfortunate is that we all know (at least those who have experienced hospitalization) that the onus of care is not on the doctors who write the orders and leave to go back to their busy offices or cozy homes but on the nurses who stay and carry them out. And for those people who have suffered a major problem in the hospital, it's more likely than not that it was a nurse who recognized it, called the physicians, and instituted lifesaving care. In my opinion and experience we need less high-priced administration, and better pay and optimum working conditions for our beleaguered nurses, who are, as Jasmine Rakoczi herself said, in the trenches, actually taking care of people.

– Robin Cook,

March 2005